60482[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	C2orf49, C2orf49-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 58900	GRCh38/hg38 2q12.2-12.3(chr2:105828398-108080417)x3	CD8B2, ECRG4 +33 more	Copy number gain	See cases	GUncertain significance
Select item 152239	GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3	ACOXL, ACOXL-AS1 +154 more	Copy number gain	See cases	GUncertain significance
Select item 150754	GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3	CCDC138, CD8B2 +99 more	Copy number gain	See cases	GUncertain significance
Select item 59313	GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3	CCDC138, EDAR +93 more	Copy number gain	See cases	GUncertain significance
Select item 152716	GRCh38/hg38 2q12.3(chr2:107901810-108472871)x3	GCC2, LINC01593 +9 more	Copy number gain	See cases	GUncertain significance
Select item 150238	GRCh38/hg38 2q12.3(chr2:107924122-108472871)x3	GCC2, LINC01593 +8 more	Copy number gain	See cases	GUncertain significance
Select item 148503	GRCh38/hg38 2q12.3(chr2:107924122-108509089)x1	GCC2, GCC2-AS1 +9 more	Copy number loss	See cases	GUncertain significance
Select item 144754	GRCh38/hg38 2q12.3-13(chr2:107962353-109700179)x1	CCDC138, EDAR +67 more	Copy number loss	See cases	GUncertain significance
Select item 1227315	NM_021815.5(SLC5A7):c.-51-294A>G	SLC5A7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295904	NM_021815.5(SLC5A7):c.-51-150T>C	SLC5A7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295903	NM_021815.5(SLC5A7):c.-51-143C>T	SLC5A7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 583584	NC_000002.11:g.(?_108604592)_(108627337_?)dup	SLC5A7	Duplication	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 464169	Single allele	CCDC138, EDAR +31 more	Duplication	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 2069794	NM_021815.5(SLC5A7):c.8T>C (p.Phe3Ser)	SLC5A7 (F3S)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 1007426	NM_021815.5(SLC5A7):c.10C>G (p.His4Asp)	SLC5A7 (H4D)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 1350169	NM_021815.5(SLC5A7):c.12T>G (p.His4Gln)	SLC5A7 (H4Q)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 1406886	NM_021815.5(SLC5A7):c.13G>A (p.Val5Met)	SLC5A7 (V5M)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 1037140	NM_021815.5(SLC5A7):c.19G>C (p.Gly7Arg)	SLC5A7 (G7R)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 2932936	NM_021815.5(SLC5A7):c.21A>G (p.Gly7=)	SLC5A7	Single nucleotide variant (synonymous variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2436064	NM_021815.5(SLC5A7):c.25A>G (p.Ile9Val)	SLC5A7 (I9V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1021994	NM_021815.5(SLC5A7):c.26T>C (p.Ile9Thr)	SLC5A7 (I9T)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 582726	NM_021815.5(SLC5A7):c.31A>G (p.Ile11Val)	SLC5A7 (I11V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1418951	NM_021815.5(SLC5A7):c.34A>G (p.Ile12Val)	SLC5A7 (I12V)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 567377	NM_021815.5(SLC5A7):c.35T>C (p.Ile12Thr)	SLC5A7 (I12T)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2948424	NM_021815.5(SLC5A7):c.36C>T (p.Ile12=)	SLC5A7	Single nucleotide variant (synonymous variant +2 more)	Congenital myasthenic syndrome 20 +1 more	GLikely benign
Select item 1469517	NM_021815.5(SLC5A7):c.37G>A (p.Val13Met)	SLC5A7 (V13M)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2931883	NM_021815.5(SLC5A7):c.39G>A (p.Val13=)	SLC5A7	Single nucleotide variant (synonymous variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 575621	NM_021815.5(SLC5A7):c.42C>A (p.Phe14Leu)	SLC5A7 (F14L)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 1981065	NM_021815.5(SLC5A7):c.46C>A (p.Leu16Ile)	SLC5A7 (L16I)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 1487409	NM_021815.5(SLC5A7):c.46C>G (p.Leu16Val)	SLC5A7 (L16V)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 464174	NM_021815.5(SLC5A7):c.46C>T (p.Leu16Phe)	SLC5A7 (L16F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 706172	NM_021815.5(SLC5A7):c.54T>C (p.Ile18=)	SLC5A7	Single nucleotide variant (synonymous variant +2 more)	Congenital myasthenic syndrome 20 +1 more	GLikely benign
Select item 1436453	NM_021815.5(SLC5A7):c.74C>T (p.Ala25Val)	SLC5A7 (A25V)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 1476505	NM_021815.5(SLC5A7):c.81G>A (p.Trp27Ter)	SLC5A7 (W27*)	Single nucleotide variant (nonsense +2 more)	Congenital myasthenic syndrome 20 +2 more	GUncertain significance
Select item 1595103	NM_021815.5(SLC5A7):c.84A>G (p.Arg28=)	SLC5A7	Single nucleotide variant (synonymous variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 2938625	NM_021815.5(SLC5A7):c.95G>A (p.Ser32Asn)	SLC5A7 (S32N)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 3380827	NM_021815.5(SLC5A7):c.102C>G (p.Ser34Arg)	SLC5A7 (S34R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1123030	NM_021815.5(SLC5A7):c.102C>T (p.Ser34=)	SLC5A7	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GLikely benign
Select item 956971	NM_021815.5(SLC5A7):c.103G>A (p.Ala35Thr)	SLC5A7 (A35T)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +2 more	GUncertain significance
Select item 654254	NM_021815.5(SLC5A7):c.110A>G (p.Glu37Gly)	SLC5A7 (E37G)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 1496005	NM_021815.5(SLC5A7):c.112C>T (p.Arg38Cys)	SLC5A7 (R38C)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 2925074	NM_021815.5(SLC5A7):c.113G>T (p.Arg38Leu)	SLC5A7 (R38L)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 853219	NM_021815.5(SLC5A7):c.113G>A (p.Arg38His)	SLC5A7 (R38H)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2928740	NM_021815.5(SLC5A7):c.117C>A (p.Ser39Arg)	SLC5A7 (S39R)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 581108	NM_021815.5(SLC5A7):c.118G>A (p.Glu40Lys)	SLC5A7 (E40K)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 532815	NM_021815.5(SLC5A7):c.119A>C (p.Glu40Ala)	SLC5A7 (E40A)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 20 +3 more	GUncertain significance
Select item 834976	NM_021815.5(SLC5A7):c.121G>A (p.Ala41Thr)	SLC5A7 (A41T)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 265764	NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer)	SLC5A7	Deletion (frameshift variant +2 more)	Congenital myasthenic syndrome 20	GLikely pathogenic
Select item 3165278	NM_021815.5(SLC5A7):c.127A>G (p.Ile43Val)	SLC5A7 (I43V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2933064	NM_021815.5(SLC5A7):c.137G>T (p.Gly46Val)	SLC5A7 (G46V)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 730276	NM_021815.5(SLC5A7):c.138C>T (p.Gly46=)	SLC5A7	Single nucleotide variant (synonymous variant +2 more)	Congenital myasthenic syndrome 20 +1 more	GLikely benign
Select item 2198045	NM_021815.5(SLC5A7):c.142G>A (p.Asp48Asn)	SLC5A7 (D48N)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 265765	NM_021815.5(SLC5A7):c.143A>G (p.Asp48Gly)	SLC5A7 (D48G)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 20	GPathogenic
Select item 2929741	NM_021815.5(SLC5A7):c.145A>T (p.Ile49Phe)	SLC5A7 (I49F)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2121776	NM_021815.5(SLC5A7):c.146T>C (p.Ile49Thr)	SLC5A7 (I49T)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 2921925	NM_021815.5(SLC5A7):c.148G>T (p.Gly50Cys)	SLC5A7 (G50C)	Single nucleotide variant (missense variant +2 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 1084777	NM_021815.5(SLC5A7):c.154T>C (p.Leu52=)	SLC5A7	Single nucleotide variant (synonymous variant +2 more)	Congenital myasthenic syndrome 20 +1 more	GLikely benign
Select item 2943080	NM_021815.5(SLC5A7):c.175A>T (p.Thr59Ser)	SLC5A7 (T59S)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 532817	NM_021815.5(SLC5A7):c.177A>G (p.Thr59=)	SLC5A7	Single nucleotide variant (synonymous variant +2 more)	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 976024	NM_021815.5(SLC5A7):c.178+1G>C	SLC5A7	Single nucleotide variant (splice donor variant +1 more)	Neuronopathy, distal hereditary motor, type 7A	GUncertain significance
Select item 2687476	NM_021815.5(SLC5A7):c.178+2T>C	SLC5A7	Single nucleotide variant (splice donor variant +1 more)	Congenital myasthenic syndrome 20	GLikely pathogenic
Select item 1779977	NM_021815.5(SLC5A7):c.178+4C>G	SLC5A7	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 532816	NM_021815.5(SLC5A7):c.178+6T>C	SLC5A7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 20 +2 more	GUncertain significance
Select item 2940662	NM_021815.5(SLC5A7):c.178+13G>A	SLC5A7	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 1544798	NM_021815.5(SLC5A7):c.178+16G>C	SLC5A7	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 1658706	NM_021815.5(SLC5A7):c.178+17C>A	SLC5A7	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 1668082	NM_021815.5(SLC5A7):c.178+18C>T	SLC5A7	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 1203309	NM_021815.5(SLC5A7):c.178+51G>A	SLC5A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196908	NM_021815.5(SLC5A7):c.178+273T>C	SLC5A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215504	NM_021815.5(SLC5A7):c.179-164A>G	SLC5A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188308	NM_021815.5(SLC5A7):c.179-107G>A	SLC5A7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1668586	NM_021815.5(SLC5A7):c.179-20C>T	SLC5A7	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 1558331	NM_021815.5(SLC5A7):c.179-19A>C	SLC5A7	Single nucleotide variant (intron variant)	Congenital myasthenic syndrome 20 +1 more	GLikely benign
Select item 1415144	NM_021815.5(SLC5A7):c.179-2A>G	SLC5A7	Single nucleotide variant (splice acceptor variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 1669595	NM_021815.5(SLC5A7):c.180T>C (p.Ala60=)	SLC5A7	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 706545	NM_021815.5(SLC5A7):c.189C>T (p.Val63=)	SLC5A7	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 20 +1 more	GLikely benign
Select item 521032	NM_021815.5(SLC5A7):c.190G>A (p.Gly64Arg)	SLC5A7 (G64R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 703260	NM_021815.5(SLC5A7):c.192A>T (p.Gly64=)	SLC5A7	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 265761	NM_021815.5(SLC5A7):c.194G>A (p.Gly65Glu)	SLC5A7 (G65E)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 1087250	NM_021815.5(SLC5A7):c.207T>C (p.Asn69=)	SLC5A7	Single nucleotide variant (synonymous variant +1 more)	Congenital myasthenic syndrome 20 +1 more	GLikely benign
Select item 1789234	NM_021815.5(SLC5A7):c.229G>A (p.Val77Ile)	SLC5A7 (V77I)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 20 +2 more	GUncertain significance
Select item 660026	NM_021815.5(SLC5A7):c.230T>A (p.Val77Glu)	SLC5A7 (V77E)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 1328592	NM_021815.5(SLC5A7):c.236G>T (p.Gly79Val)	SLC5A7 (G79V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 660446	NM_021815.5(SLC5A7):c.238T>C (p.Tyr80His)	SLC5A7 (Y80H)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 572195	NM_021815.5(SLC5A7):c.260C>T (p.Ala87Val)	SLC5A7 (A87V)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 261428	NM_021815.5(SLC5A7):c.265A>G (p.Ile89Val)	SLC5A7 (I89V)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 20 +3 more	GBenign
Select item 2048423	NM_021815.5(SLC5A7):c.266T>C (p.Ile89Thr)	SLC5A7 (I89T)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 464173	NM_021815.5(SLC5A7):c.275C>T (p.Ser92Phe)	SLC5A7 (S92F)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 1410787	NM_021815.5(SLC5A7):c.277C>T (p.Leu93Phe)	SLC5A7 (L93F)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 1009227	NM_021815.5(SLC5A7):c.277C>A (p.Leu93Ile)	SLC5A7 (L93I)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 2058634	NM_021815.5(SLC5A7):c.278T>G (p.Leu93Arg)	SLC5A7 (L93R)	Single nucleotide variant (missense variant +1 more)	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 2178935	NM_021815.5(SLC5A7):c.285G>C (p.Leu95=)	SLC5A7	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign
Select item 1797796	NM_021815.5(SLC5A7):c.292G>A (p.Gly98Ser)	SLC5A7 (G98S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1009672	NM_021815.5(SLC5A7):c.292+1G>A	SLC5A7	Single nucleotide variant (splice donor variant)	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 2922336	NM_021815.5(SLC5A7):c.292+5G>C	SLC5A7	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 1613909	NM_021815.5(SLC5A7):c.292+11G>C	SLC5A7	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 7A +1 more	GLikely benign

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